Objective: In the current work, we recognized big inbreed Pakistani family with autosomal recessive NBIA containing several affected individuals. Aim of the research work was to identify disease causing gene/s and advance the knowledge on preventive measurements for mental disorders.

Background: Mental disorder (MD) or abnormality is a multifaceted expression which is a behavioural or psychological blueprints coupled with impairment occurring in a human being but does not express in typical improvement or society. Incidence of mental disorders is comparatively more in Pakistan due to more kindred ship or consanguinity. Neurodegeneration with brain iron accumulation (NBIA) covers a class of escalating extra pyramidal abnormalities distinguished by iron accumulation in the brain.

Method: Nucleic acid (DNA) was extracted and subjected to STS (Single tagged sequence) marker analyses for mapping of homozygosity in reported genes and loci regions using a fluorescence three primer method. For NBIA family (consists of three loops), detailed clinical examination including brain MRI was made for two affected from two loops. Both affected individuals showed phenotype of NBIA. Moreover, its three loops/portions were processed for Genome wide scanning using SNP6.0 array for uncovering of homozygous areas within the genome.

Results: No shared homozygous area was observed for all three portions and even for any two portions while five homozygous areas were observed for a single central portion. By examining genotypes for these three portions, no link was observed for compound heterozygosity. PANK2 gene was sequenced as a candidate for this family but no mutation was found.

Conclusion: Such observations have expressed the molecular mechanism of the family more multifaceted and propose multiple achievable mechanisms for molecular background; it could be compound heterozygous, contain three dissimilar mutations or be digenic. This multifariousness of NBIA requires higher molecular analysis including high throughput sequencing technologies to unravel the molecular mechanisms of this illness.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/consanguinity-is-the-key-player-in-complexity-of-mendelian-form-of-neurodegeneration-with-brain-iron-accumulation-in-pakistan/